Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity. Here, we report a genome screen of nine BSCL families from two geographical clusters (in Lebanon and Norway). We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of various ethnic origins led to the identification of 11 families in which the disease cosegregates with the 11q13 locus; the remaining families provide confirmation of linkage to 9q34. Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families. BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function. Most of the variants are null mutations and probably result in a severe disruption of the protein. These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

The exceptional toxicity of arsenate [As(V)] is derived from its close chemical similarity to phosphate (Pi), which allows the metalloid to be easily incorporated into plant cells through the high-affinity Pi transport system. In this study, we identified an As(V)-tolerant mutant of Arabidopsis thaliana named pht1;1-3, which harbors a semidominant allele coding for the highaffinity Pi transporter PHT1;1. pht1;1-3 displays a slow rate of As(V) uptake that ultimately enables the mutant to accumulate double the arsenic found in wild-type plants. Overexpression of the mutant protein in wild-type plants provokes phenotypic effects similar to pht1;1-3 with regard to As(V) uptake and accumulation. In addition, gene expression analysis of wild-type and mutant plants revealed that, in Arabidopsis, As(V) represses the activation of genes specifically involved in Pi uptake, while inducing others transcriptionally regulated by As(V), suggesting that converse signaling pathways are involved in plant responses to As(V) and low Pi availability. Furthermore, the repression effect of As(V) on Pi starvation responses may reflect a regulatory mechanism to protect plants from the extreme toxicity of arsenic.

In plants, developmental programs and tropisms are modulated by the phytohormone auxin. Auxin reconfigures the actin cytoskeleton, which controls polar localization of auxin transporters such as PIN2 and thus determines cell-type-specific responses. In conjunction with a second growth-promoting phytohormone, brassinosteroid (BR), auxin synergistically enhances growth and gene transcription. We show that BR alters actin configuration and PIN2 localization in a manner similar to that of auxin. We describe a BR constitutive-response mutant that bears an allele of the ACTIN2 gene and shows altered actin configuration, PIN2 delocalization, and a broad array of phenotypes that recapitulate BR-treated plants. Moreover, we show that actin filament reconfiguration is sufficient to activate BR signaling, which leads to an enhanced auxin response. Our results demonstrate that the actin cytoskeleton functions as an integration node for the BR signaling pathway and auxin responsiveness.

Summary Serendipita indica (formerly Piriformospora indica) is an endophytic fungus that colonizes plant roots producing a beneficial effect on plant growth and development under optimal and suboptimal conditions provoked by any biotic or abiotic stress, such as salt stress. Salinity induces osmotic and ionic imbalances in plants, mainly by altering the Na+ and K+ contents. However, the mechanism by which Serendipita improves plant growth has yet to be elucidated. Previous works suggest that this fungus improves the plant osmotic state but not much is known about whether it participates in readjustment of the ionic imbalance in plants. Here, we report that co‐cultivation with Serendipita reduces the Na+ content of Arabidopsis plants under saline conditions. Additionally, we describe the functional characterization of the two Serendipita ENA ATPases, which are homologous to the main proteins involved in the salt tolerance of other fungi. Their heterologous expression in salt‐sensitive yeast mutants shows that SiENA1 is involved in Na+ and K+ efflux, while SiENA5 seems to only be involved in Na+ detoxification. Both are induced and might have a relevant function at alkaline pH, condition in which there are few chlamydospores in the mycelium, as well as during co‐cultivation with plants exposed to saline conditions.

Rhizobium leguminosarum bv. viciae is a soil α-proteobacterium that establishes a diazotrophic symbiosis with different legumes of the Fabeae tribe. The number of genome sequences from rhizobial strains available in public databases is constantly increasing, although complete, fully annotated genome structures from rhizobial genomes are scarce. In this work, we report and analyse the complete genome of R. leguminosarum bv. viciae UPM791. Whole genome sequencing can provide new insights into the genetic features contributing to symbiotically relevant processes such as bacterial adaptation to the rhizosphere, mechanisms for efficient competition with other bacteria, and the ability to establish a complex signalling dialogue with legumes, to enter the root without triggering plant defenses, and, ultimately, to fix nitrogen within the host. Comparison of the complete genome sequences of two strains of R. leguminosarum bv. viciae, 3841 and UPM791, highlights the existence of different symbiotic plasmids and a common core chromosome. Specific genomic traits, such as plasmid content or a distinctive regulation, define differential physiological capabilities of these endosymbionts. Among them, strain UPM791 presents unique adaptations for recycling the hydrogen generated in the nitrogen fixation process.

K+ is widely used by plant cells, whereas Na+ can easily reach toxic levels during plant growth, which typically occurs in saline environments; however, the effects and functions in the chloroplast have been only roughly estimated. Traditionally, the occurrence of ionic fluxes across the chloroplast envelope or the thylakoid membranes has been mostly deduced from physiological measurements or from knowledge of chloroplast metabolism. However, many of the proteins involved in these fluxes have not yet been characterized. Based on genomic and RNA sequencing (RNA-seq) analyses, we present a comprehensive compilation of genes encoding putative ion transporters and channels expressed in the chloroplasts of the moss Physcomitrella patens, with a special emphasis on those related to Na+ and K+ fluxes. Based on the functional characterization of nhad mutants, we also discuss the putative role of NHAD transporters in Na+ homeostasis and osmoregulation of this organelle and the putative contribution of chloroplasts to salt tolerance in this moss. We demonstrate that NaCl does not affect the chloroplast functionality in Physcomitrella despite significantly modifying expression of ionic transporters and cellular morphology, specifically the chloroplast ultrastructure, revealing a high starch accumulation. Additionally, NHAD transporters apparently do not play any essential roles in salt tolerance.